Initial Presentations of Pediatric Hemophiliacs

From the Department of Pediatrics, Northwestern University—McGaw Medical Center, Chicago, Ill (Dr Conway), and the Department of Pediatrics, Division of Pediatric Hematology-Oncology, Cornell University Medical College—New York Hospital, New York (Dr Hilgartner). Dr Conway is now with the Department of Pediatrics, Division of Infectious Diseases, University of Colorado, Denver.

Objective:To examine the manner of presentation and time elapsed before diagnosis in a current population of pediatric patients with coagulopathies compared with a historically similar group presented by Baehner and Strauss in 1966.

Design:Comparative retrospective patient series.

Setting:A large pediatric (hemophilia) referral center in New York, NY.

Population:Sixty-five male patients presented for evaluation of a presumed coagulopathy between 1974 and 1989. Nine patients were excluded for inadequate data or follow-up. Of the 56 patients included, 47 were were factor VIII deficient (32 severely affected, 15 not severely affected) and nine were factor IX deficient (six severely affected, three not severely affected).

Interventions:None.

Results:Severely affected neonates were diagnosed younger than 1 month significantly more often in this patient population compared with the 1966 population (68.4% vs <10%, P<.001). Patients not severely affected were also diagnosed younger than 1 month significantly more often than in 1966(50% vs 2.5%, P<.001). Workup in these groups was initiated because of either bleeding events or family history with similar frequency (48.6% vs 51.4%); historically, diagnosis had ensued primarily after bleeding events. By 1 year of age, all severely affected infants had been diagnosed in our population, a statistically significant improvement compared with the historical group (100% vs <40%, P<.001); patients not severely affected were also diagnosed more frequently (72.2% vs 15%, P<.001). Eighty-five percent of diagnoses made after 1 month of age were based on bleeding events, despite a positive family history of 28.6%. Overall, 35.7% of diagnoses resulted after a positive family history was elicited.

Conclusions:In this population, diagnoses were made earlier than in the comparison group. Attention to family history and early bleeding events continues to contribute to the early diagnosis of factor deficiencies.(Arch Pediatr Adolesc Med. 1994;148:589-594)